Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.V439fs

HTRA2

292 papers

RefSeq Summary

This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein ha...

Pfam Domains

Trypsin_2aa 182–320UCSCTrypsin-like peptidase domain
PDZ_6aa 370–411UCSCPDZ domain
PDZ_6aa 392–443UCSCPDZ domain

Gene Aliases

HGNC Name

HtrA serine peptidase 2

HGNC Previous Symbol

PRSS25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013247.5
p.V439fs
c.1315_1316fs
Surrounding Variants
4 papers
NM_013247.5
p.A438fs
c.1312_1313fs
5 papers
NM_013247.5
p.A438_V439delFs
c.1312_1316del5
1 paper
NM_013247.5
p.I441V
c.1321A>G
1 paper
NM_013247.5
p.Y451C
c.1352A>G
1 paper
NM_013247.5
p.E455E
c.1365G>A
1 paper
NM_013247.5
p.Q419*
c.1255C>T
1 paper
NM_013247.5
p.E418G
c.1253A>G
1 paper
NM_013247.5
p.R408Q
c.1223G>A
2 papers
NM_013247.5
p.G406C
c.1216G>T
6 papers
NM_013247.5
p.R404Q
c.1211G>A
11 papers
NM_013247.5
p.R404W
c.1210C>T
3 papers
NM_013247.5
p.S400A
c.1198T>G
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